hrp0097p1-294 | GH and IGFs | ESPE2023

A novel variant of IGF1R in a Chinese family with short stature and efficacy of recombinant human growth hormone therapy

Lu Huifei

Introduction: Insulin-like growth factor 1 receptor (IGF1R) mutations lead to systemic disturbances in growth due to widespread IGF1R expression throughout the body. IGF1R is expressed by innate and adaptive immune cells, facilitating their development and exerting immunomodulatory roles in the periphery.Case Report: We detected a novel heterozygous variant c.664 C > T (NM_000875) of IGF1R in a Chinese family with sho...

hrp0097p1-531 | Multisystem Endocrine Disorders | ESPE2023

Clinical analysis of 193 patients with McCune-Albright syndrome in China based on literature review

Feng Xin , Yuan ke , Lu Huifei , Tu Haifeng , Zhu Jianfang , Fang yanlan , Yan Qingfeng , Wang Chunlin

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...